Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Abnormalities and PROP1[original query] |
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Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. The Journal of clinical endocrinology and metabolism 2010 Aug 95 (8): 4043-7. Dateki Sumito, Fukami Maki, Uematsu Ayumi, Kaji Masayuki, Iso Manami, Ono Makoto, Mizota Michiyo, Yokoya Susumu, Motomura Katsuaki, Kinoshita Eiichi, Moriuchi Hiroyuki, Ogata Tsuto |
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. Clinical endocrinology 2015 Jul . De Rienzo Francesca, Mellone Simona, Bellone Simonetta, Babu Deepak, Fusco Ileana, Prodam Flavia, Petri Antonella, Muniswamy Ranjith, De Luca Filippo, Salerno Mariacarolina, Momigliano-Richardi Patricia, Bona Gianni, Giordano Mara, |
Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea. Yonsei medical journal 2017 May 58 (3): 527-532. Choi Jin Ho, Jung Chang Woo, Kang Eungu, Kim Yoon Myung, Heo Sun Hee, Lee Beom Hee, Kim Gu Hwan, Yoo Han Wo |
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency. Journal of clinical research in pediatric endocrinology 2020 1 12 (3): 261-268. Bulut Fatma Derya, Özdemir Dilek Semine, Kotan Damla, Mengen Eda, Gürbüz Fatih, Yüksel Bilg |
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency. European journal of endocrinology 2022 10 187 (6): 787-795. Fourneaux Rachel, Reynaud Rachel, Mougel Gregory, Castets Sarah, Bretones Patricia, Dauriat Benjamin, Edouard Thomas, Raverot Gerald, Barlier Anne, Brue Thierry, Castinetti Frederic, Saveanu Alexand |
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